Diseases

Dyschondrosteosis Léri Weill – Causes, Symptoms & Treatment

Dyschondrosteosis Leri Weill

Dyschondrosteosis Léri Weill is a disease with genetic causes. Léri Weill’s dyschondrosteosis is included in the category of skeletal dysplasia. The typical hallmark of the disease is short stature, which is also disproportionate. The middle sections of the extremities are symmetrically shortened. At the same time, a so-called Madelung deformity occurs as part of Léri Weill’s dyschondrosteosis.

What is Léri Weill dyschondrosteosis?

Dyschondrosteosis Léri Weill is also synonymously called Léri-Weill syndrome or Lamy-Bienefeld syndrome . Basically, the name is derived from the two people who first described the disease in 1929. In addition to short stature , the Madelung deformity is a characteristic symptom that is particularly evident in the wrist.

The frequency of Léri Weill’s dyschondrosteosis is not yet known. The middle areas of lower leg and forearm bones are shortened. While this shortening occurs in newborns, in some cases the Madelung deformity does not develop until puberty. Basically, however, it shows up on both sides. In addition to a shortening of the limbs, these are often bent.

This usually impairs mobility . Léri Weill’s dyschondrosteosis varies from person to person. However, the disease is often more severe in women than in male patients. Men have an athletic stature as part of the disease, since there is also muscle hypertrophy. The persons concerned are of average intelligence.

causes

Dyschondrosteosis Léri Weill is a hereditary disease and is caused by a mutation in a specific gene. The disease is inherited in an autosomal dominant manner. Women are more often and more severely affected by the disease than male patients. The so-called SHOX gene is involved in the mutations. Changes in this gene region can also lead to Langer-type mesomelic dysplasia.

Symptoms, Ailments & Signs

The symptoms and signs of Léri Weill’s dyschondrosteosis are very striking. Affected individuals suffer from short stature associated with characteristic features of the skeleton. The majority of sufferers have mutations in the SHOX gene.

However, the deformities of the bones vary greatly from patient to patient. However, brachymetacarpy in connection with cubitus valgus is characteristic of Léri Weill’s dyschondrosteosis. In addition, a Madelung deformity usually develops on both wrists. Mesomelia is also possible.

Bone abnormalities are usually more severe in females than in males. In addition, they are only visible after birth. Skeletal features are most pronounced in precocious patients. Basically, the Madelung deformity develops when the growth plates connect with each other in the premature stage.

If the SHOX gene is heterozygous, skeletal development is impaired even before birth. After birth, the development depends on whether the person in question has Léri Weill dyschondrosteosis. The majority of patients suffering from dyschondrosteosis Léri Weill is growing continuously.

The final height is approximately 12 centimeters smaller than the average height of healthy people. The unusually short height of patients with Léri Weill’s dyschondrosteosis is particularly noticeable after puberty. From this phase, growth slows down considerably. Another manifestation of Léri Weill’s dyschondrosteosis is the so-called Langer syndrome. However, this is phenotypically much more severe.

Diagnose

In numerous cases, Léri Weill’s dyschondrosteosis is already visible in newborn babies immediately after birth. Here, for example, the shortening of the extremities and possibly also bending can be seen. From puberty at the latest, the short stature of the affected patients becomes clear, since growth is only very slow.

If there is a suspicion of the presence of Léri Weill’s dyschondrosteosis, a doctor should be consulted. The specialist conducts an anamnesis with the patient. Since Léri Weill’s dyschondrosteosis is inherited, a thorough family history is very important. Various clinical examinations then take place. X-ray examinations of the skeleton are particularly important here .

Léri Weill’s dyschondrosteosis can be diagnosed with certainty with the help of a genetic analysis . This will detect the mutation on the SHOX gene. With certain genetic tests, it takes about three weeks until a result is available. It is also possible to carry out cytogenetic analyses. A differential diagnosis is also important, whereby Léri Weill’s dyschondrosteosis must be distinguished primarily from Turner’s syndrome .

complications

Léri Weill’s dyschondrosteosis causes various malformations on the body and short stature. Due to the deformities, children can become victims of teasing and bullying and often suffer from psychological problems. The extremities are often asymmetrical and associated with restricted movement.

However, the malformations differ in most patients, so that no general prediction of the complications is possible. The wrists are also often deformed and the patient stunted. The malformations can limit various everyday activities, so that the affected person is dependent on the help of other people and suffers from a reduced quality of life.

A causal treatment of the dyschondrosteosis Léri Weill is unfortunately not possible. The patient must therefore spend his entire life with the symptoms and complaints. However, it is possible to support and relieve the wrists. Usually there are no further complications or complaints. Necessary surgical interventions can be carried out when the patient is young and are often accompanied by physiotherapeutic measures.

When should you go to the doctor?

In most cases, Léri Weill’s dyschondrosteosis is diagnosed immediately after birth. Whether other doctor visits are required apart from the usual therapeutic measures depends on the severity of the symptoms. Necessary surgical interventions can already be carried out in childhood and are often supported by physiotherapeutic measures. If problems arise in everyday life despite surgical treatment, the responsible doctor must be spoken to. The patient may need long-term or permanent support in everyday tasks.

In the event of falls and accidents as a result of the deformities, the medical emergency service should be contacted or the person concerned must be taken to the nearest hospital. If the child is subject to bullying and teasing because of the deformities, a therapist must be consulted. In the case of serious psychological problems, long-term psychological and medical care is advisable. These measures may need to be continued into adulthood. In addition to the family doctor , a specialist in hereditary diseases can also be consulted in the case of dyschondrosteosis Léri Weill.

Treatment & Therapy

Léri Weill’s dyschondrosteosis is treated symptomatically, since it is not possible to eliminate the causes. Supports, splints or other ergonomic aids are used to protect the wrist. In some cases, an operation is performed to restore the function of the joint.

Such an operation is primarily performed in childhood. This also reduces pain at the same time. Physiotherapy also plays an important role. Regular check-ups of the patient by the relevant specialists are also important.

Outlook & Forecast

A causal treatment of Léri Weill’s dyschondrosteosis is not possible because this disease is a genetic disease. Therefore, those affected are dependent on purely symptomatic treatment, which can alleviate the symptoms, but cannot limit them completely.

If Léri Weill’s dyschondrosteosis is not treated, the symptoms severely limit the patient’s everyday life. The shortened extremities and the continuous growth lead to movement restrictions and thus to developmental disorders in children. Puberty also sets in early, which can lead to complications in adulthood.

Those affected suffer from malgrowth all over their body and thus often from teasing or bullying. For this reason, the symptoms should be treated early in order to avoid mental upsets and depression .

As a rule, the disease can be alleviated by various surgical interventions and measures of physiotherapy. However, this does not achieve complete healing. The grip of the wrist can usually be restored, so that there are no restrictions in everyday life. Life expectancy is usually not affected by the syndrome.

prevention

There are currently no measures or options for preventing Léri Weill’s dyschondrosteosis, as it is an inherited disease. Therefore, a timely diagnosis with subsequent therapy is particularly relevant, as it reduces the impairment of the wrist, for example.

You can do that yourself

Dyschondrosteosis Léri Weill is a genetic disease in which no changes in the mutations can be achieved by one’s own efforts. Self-help measures are limited to everyday improvement options in dealing with the disease.

Children who are born with the malformation should be informed in good time about the disease, its properties and effects. If the child was not adopted, affected family members can also report on their experiences and should encourage the child. Dealing with the daily challenges can be practiced together so that the child is not unprepared for certain situations that can be emotionally stressful or overwhelming.

In the case of mental or psychological problems, discussions can be held and the child’s self-confidence can be encouraged. It is helpful to carry out activities in which the sick child can show their strengths and encourage them further. The disease plays an important role in everyday life. Nevertheless, it can be very relieving if sufficient space and attention is also given to other topics and developments.

Being aware of events outside of your own life or comfort zone helps to have distractions and gain new experiences. At the same time, exchange with people who are also ill or participation in self-help groups are ways of improving the quality of life.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.